Product Details

SNP ID

rs7530017

Assay Type

Functionally tested

NCBI dbSNP Submissions

5

Location

Chr.1:46559154 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

CCTCCCTCTCCCAGCCTGCGTGGGG[A/T]AAAAGCTCCCAGAGCAAGGCCTGCG

Phenotype

MIM: 611455 MIM: 606724

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

KNCN PubMed Links

Gene Details

Gene

KNCN

Gene Name

kinocilin

There are no transcripts associated with this gene.

Gene

MKNK1

Gene Name

MAP kinase interacting serine/threonine kinase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001135553.2		Intron			NP_001129025.1
NM_003684.5		Intron			NP_003675.2
NM_198973.3		Intron			NP_945324.1
XM_006711000.1		Intron			XP_006711063.1
XM_006711001.2		Intron			XP_006711064.1
XM_006711002.2		Intron			XP_006711065.1
XM_006711003.1		Intron			XP_006711066.1
XM_006711006.3		Intron			XP_006711069.1
XM_006711007.1		Intron			XP_006711070.1
XM_006711009.3		Intron			XP_006711072.1
XM_006711013.1		Intron			XP_006711076.1
XM_006711014.1		Intron			XP_006711077.1
XM_006711015.1		Intron			XP_006711078.1
XM_017002652.1		Intron			XP_016858141.1
XM_017002653.1		Intron			XP_016858142.1
XM_017002654.1		Intron			XP_016858143.1
XM_017002655.1		Intron			XP_016858144.1
XM_017002656.1		Intron			XP_016858145.1
XM_017002657.1		Intron			XP_016858146.1
XM_017002658.1		Intron			XP_016858147.1
XM_017002659.1		Intron			XP_016858148.1
XM_017002660.1		Intron			XP_016858149.1
XM_017002661.1		Intron			XP_016858150.1
XM_017002662.1		Intron			XP_016858151.1
XM_017002663.1		Intron			XP_016858152.1
XM_017002664.1		Intron			XP_016858153.1
XM_017002665.1		Intron			XP_016858154.1
XM_017002666.1		Intron			XP_016858155.1
XM_017002667.1		Intron			XP_016858156.1
XM_017002668.1		Intron			XP_016858157.1

Gene

MKNK1-AS1

Gene Name

MKNK1 antisense RNA 1

There are no transcripts associated with this gene.

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